Variants in the RNU4-2 gene are a previously unrecognized cause of an autosomal dominant form of the inherited eye disease retinitis pigmentosa (RP). According to a study published in Nature [...]
De novo variants in the KDM2A gene cause a syndromic neurodevelopmental disorder. Researchers identified disease-causing missense variants and variants predicted to result in loss of function in [...]
Bi-allelic variants in the PRMT9 gene that abolish the function of the encoded protein give rise to a neurodevelopmental disorder with autosomal recessive inheritance. A recent study published in [...]
A study recently published in Science systematically maps the functional impact of nearly all approximately 17,000 possible missense variants in the LDLR gene. The comprehensive functional data [...]
A gene therapy based on CRISPR activation (CRISPRa) shows promise for treating SCN2A-related disorders, which may be associated by epilepsy and other conditions and are caused by gene [...]
TGDS acts as a “rescue molecule” in sugar metabolism—a previously unknown physiological function of the enzyme deoxy-TDP-D-glucose 4,6-dehydratase described now by researchers in Nature. The [...]
APOE is not only a well-known risk gene for Alzheimer’s disease, but primarily an important regulator of the immune system—according to a study published in Nature Medicine. Apolipoprotein E [...]
MoReHealth Niedersachsen is an innovative research project bringing the latest multi-omics research—meaning the simultaneous analysis and interpretation of different biological layers such as [...]
The ATM serine/threonine protein kinase, encoded by the ATM gene, plays a crucial role in regulating the cell’s mechanisms to repair DNA damage, and mutations in ATM increase the risk of cancer [...]
